Name：NTCC? NA01390 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA01390
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 3 MO
Gender性別: Male
Description描述: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADENOSINE DEAMINASE; ADA
Remarks: Clinically affected; pyloric stenosis; absence of thymic shadow on chest x-ray; anterior ends of the right 4th and 6th ribs are flared; mild to moderate shortening of the long bones, especially the femurs; the iliac and ischial bones are short and the acetabular roofs are flattened; no radiographic evidence of metaphyseal chondrodysplasia; died at 2 months of age; principal diagnoses as determined by autopsy include: combined immunodeficiency with metaphyseal dysostosis (including lymphoid hypoplasia of thymus, lymph node, spleen, and gastrointestinal tract), graft versus host reaction (including severe hypoplasia of bone marrow, reticuloendothelial erythrophagocytosis, and slight histiocytic infiltration of gastrointestinal tract, lymph nodes, and bone marrow), sepsis, candidiasis of gastrointestinal tract and tracheobronchial tree, hypertrophy of pyloric musculature with recent pyloromyotomy, and multifocal acute hemorrhagic bronchopneumonia; growth retardation; enzyme phenotypes: G6PD=B, Peptidases A, C, and D=1; deficient ADA activity; donor subject is a compound heterozygote for mutations in the ADA gene: one allele has a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216[Gly216Arg(G216R)]; the other allele had a 5-nucleotide deletion (del nt1050-54; GAAGA), found by direct sequence analysis of exon 10 (PMID: 8401541).
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ADA
Disease疾病類型:
Mutations突變: GLY216ARG
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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